'The Son I Adore Is The Son I Should Have Never Had'

What it's really like raising a child with a genetic disorder. Photo: Sharon McCutcheon on UnsplashSource:Whimn

Twice a day in our house, we turn on a projector that casts cartoon music videos on a blank stretch of wall. The songs are catchy and bright and usually keep our toddler captivated for the amount of time we need him to hold still. “There are no monsters who live in our home,” goes one of my favourites. “There’s only me and my family who live in our home / ’Cause there are no monsters that live here.”

Up on the wall, two healthy-looking cartoon children learn not to be scared of the dark, while my son clutches my forearm and breathes dutifully into a mask. Sometimes he spots something familiar — an animal with a noise he can make, a color he knows how to say — and rushes to point it out, only to have his voice muffled by medical equipment. Unlike the home in the song, ours does have a monster, one that doesn’t hide under the bed or in the closet. Half of it lives in my husband’s DNA, half in mine. We’re still figuring out what the whole thing looks like, but we do know it’s coming for our son. In lots of ways, it’s already here.

In the most basic sense, this is why: Tag and I are both healthy carriers of mutations that cause the genetic disease cystic fibrosis. Dudley inherited two mutations, one from each of us, and this means he has the disease, which results from the body’s mishandling of chloride and sodium. On the outside, this means CF patients have extra-salty skin. On the inside, it means they have thick, sticky mucus in their lungs, pancreas, and other organs, leading to digestive problems and low weight gain, clogged airways and trapped bacteria. The excess mucus causes persistent lung infections, severely limiting patients’ abilities to breathe until, eventually, they no longer can. People who have CF must treat it vigilantly, with physical therapy to clear airways, inhaled medications, and fistfuls of pills. Doing so takes lots of money and staggering amounts of time.

Time is important in describing life with cystic fibrosis: how many hours each day you spend on treatments (for my toddler son, two; for adults, up to four), how many weeks at a time you spend in the hospital (a couple, if you’re having a “tune-up” for a lung infection), how many months since you last saw a doctor (during periods of relative health, three).

How many years you can expect to live: In 2016, half of all reported deaths occurred before the age of 30. In the later stages of the disease, you might measure time between incidents of coughing up blood, keep track of how long you’ve been on oxygen full time, or, should you qualify for one, count the number of years you’re expected to live after a double lung transplant (about five). Most patients with CF die in a hospital setting, after a long, steady decline, of overwhelming lung infections. The first time more adults than children were living with cystic fibrosis was just three years ago, in 2014.

My son has always had CF and always will

We first learned it was a possibility in April of 2016, when Dudley was a week old. The hospital called to tell us that his newborn screening — a blood test that checks for various disorders not immediately apparent after birth — had come back abnormal. Dudley needed something called a sweat test, the woman on the phone said, to see whether he had cystic fibrosis. I told her this had to be a mistake. “If there were something wrong,” I insisted, “we would already know.” In a tone attempting to be gentle, she explained that this was not necessarily the case.

In an educational video about newborn screenings Tag and I watched soon after that phone call, people perching on stools described what it means when a baby needs a sweat test, which is exactly what it sounds like: an examination of an infant’s sweat. Babies like Dudley, we learned, need the test because their newborn screenings indicate they might have cystic fibrosis. A woman with long hair told the camera that only a very small number of these babies actually have CF, holding her forefinger and thumb a hair’s width apart to demonstrate just how few. I was impatient for my family to be safely outside that woman’s fingers, but because very young babies don’t make enough sweat to test, we had to wait another two weeks.

DNA tests returned with an abnormal result. Photo: Picsea on UnsplashSource:Whimn

On the day of Dudley’s sweat test, the genetic counselor who took down our information was upbeat. We sat across from her in a dim room kept warm; already, before the test started, I could feel Dudley overheating from the clothes we’d been instructed to dress him in — a hat, a sweater, thick socks. The counselor repeated what our pediatrician had already explained: how his newborn screening had shown just one mutation, how there were plenty of reasons besides cystic fibrosis (a long, jagged labor, a touch of jaundice) that could be responsible for the abnormal result. Also, she pointed out, I’d said I remembered having genetic tests during pregnancy. Unless I had an extremely rare genetic mutation, a prenatal test would have caught mine.

Later that day, when I called her back after a beer at our favorite bar, the genetic counselor sounded different. She’d been wrong about when the results would be ready for her to read. They wouldn’t be in until the next day, she said, her voice newly hesitant. Annoying is what I think Tag called that information. We stopped by the grocery store; I probably nursed once we got home. Dudley must have gone down for a nap, because my hands were free when the counselor called again and asked whether I was alone.

I put the phone on speaker, and Tag sat down next to me on the couch, our heads bent underneath a shelf I realised later I’d always hated. The counselor claimed she’d gone back and was now able to read the results — which must have been a lie, one I almost wish I’d called her out on, if it hadn’t been so hilariously and heartbreakingly kind in its intention. I’ve seen the results for myself, and the numbers could not be clearer. The normal range for chloride in an infant’s sweat is about 29 millimoles or less per litre. The sweat on Dudley’s left arm came back at 68, his right at 71.

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“I know this is not what we were expecting,” the counselor said, choking up. My own voice rose; I asked the same question once, twice, three times. Our dog trotted over and peed on the rug, as if to express his own disbelief. I repeated myself again: How could this have happened? The counselor explained her theory, which we found out later was not quite right.

All theories aside, ten years ago, when Tag and I walked toward each other in a dark bar off the side of a highway in Montana, this is what we had no idea we were walking toward: the one-in-four chance of creating a child permanently unwell. Because we both carry a CF mutation, there is a 50%t chance any child of ours will be born a healthy carrier, like we are. There’s a 25% chance of a baby with no mutations at all. And there’s a 25% chance of a baby with two disease-causing mutations, like Dudley.

But if you had known, what then?

A woman asked me earlier this year, shaking her head, her smile soft with pity. If I responded at all, and I’m not sure I did, I can’t remember what I said. But I know I did not use the word abortion, or bring up our legal situation, or explain the concept of “wrongful birth.” In a roomful of people I barely knew, with Dudley pushing a plastic car back and forth over the carpet nearby, I did not tell her that I do know exactly what it is I would have done.

During my first pregnancy appointment, at eight weeks along, it was Tag who asked the midwife whether most people did genetic testing. She told us most people did. We agreed to the tests; the midwife wrote up the order. We were laying the foundation of a plan we’d discussed before I’d even gotten pregnant: If something were wrong, we’d decided, we wouldn’t continue the pregnancy.

Before we left that appointment, the midwife reminded us of the practice’s policy on test results. No news is good news. Unless tests showed something negative, no one would call us. No one did. Until Dudley was diagnosed, we did not know the nature of my results. Somewhere between the hospital that processed the results and the midwives who handled my care, something went awry, and the answer to the question we’d asked was never delivered. I saw the midwives at least once a month for the rest of my pregnancy. At every appointment, we were told how well everything was going.

Jen argues her son should never have been born. Photo: iStockSource:Whimn

At first, we couldn’t imagine suing them

But then, we could. I could. Dudley was diagnosed in May; I contacted a lawyer in June. I remember being so proud of myself for the way I did not cry when I explained everything over the phone — not even once. I cut off our lawyer, Martha McBrayer, as she led up to the question and stopped her from asking it all the way: I would have had an abortion, I told her.

You can’t discuss what happened to me without discussing abortion. In what’s called a wrongful-birth case, plaintiffs sue a medical practitioner for the failure to diagnose or inform them of a disease or disability possible to detect in utero; it is understood that in almost all cases, the plaintiff would have aborted the pregnancy had she been able to make an informed decision. The money awarded in wrongful-birth cases goes toward the cost — usually astronomically high — of the child’s medical care. In other words, a mother desperate to help her child declares that she would not have had that child.

Tag, Dudley, and I met Martha for the first time at the diner across from our apartment. Between explaining the particulars of medical malpractice, she stopped to smile at our baby. “He is just so present,” she exclaimed. “Look at him — he’s like, I’m here.” I grinned back at her as hard as I could, as if the strength of a smile could eclipse why we were sitting in front of pancakes: the assertion that we would not have had him be here, or anywhere, had we known.

For the pro-lifers who oppose wrongful-birth suits, this paradox — what does it mean to fight for someone when what you’re fighting for is a missed chance at that person’s not existing? — is reason enough to eliminate the legal pathway altogether. Anti-abortion crusaders paint wrongful birth as an attack on those living with disability or disease; they accuse mothers like me of wishing our children had never been born, of seeking flawless “designer babies” free of health issues. The language probably doesn’t help: No birth is wrong, those against wrongful birth love to point out.

The results came in positive for the F508del mutation. Photo: iStockSource:Whimn

Not long after we met with Martha, I went to gather my medical records from the midwives. I told myself to wait until I got home, but instead I opened the envelope a block from my house, with Dudley in the carrier and his face against my chest. I remember holding the papers above his head to see the text:

Results: Positive for one copy of F508del mutation.

Interpretation: This individual is a carrier of CF.

Genetic counseling is recommended to discuss the potential clinical and/or reproductive implications of this result, as well as recommendations for testing other family members and, when applicable, this individual’s partner.

Because we’d been under the impression that nothing had come up on my prenatal genetic tests, the genetic counselor we saw the day of Dudley’s sweat test had posited that I had a mutation too rare to be detected. I don’t; Tag does. Mine isn’t just common — it’s the most common cystic-fibrosis gene mutation, capable of being detected by a basic genetic screening. In the sunlight, the recommendation grew starker, the distance widening between what could have happened and what did. The reproductive implication, meanwhile, continued his nap.

Usually, people need a little bit of time to understand the conditions that created our situation in the first place. The summer after Dudley was born, my sister-in-law came to visit; we were talking in the kitchen while he slept in the other room. “But,” she said, trying to figure out what it would mean to sue over a disease that can’t be prevented or fixed, “if you had known — ” I interrupted her, wanting to rush ahead but promptly bursting into tears when I said it: “There would be no Dudley.” I remember the look that crossed her face, how she nodded slowly and said, twice, “That’s a lot.”

The more I discuss the abortion I didn’t have, the easier that part gets to say aloud: I would have ended the pregnancy. I would have terminated. I would have had an abortion. That’s firmly in the past, and it is how I would have rearranged my actions, given all the information. It’s moving a piece of furniture from one place to another before anything can go wrong, the way we got rid of our wobbly side tables once Dudley learned to walk. What’s so acutely painful is what I didn’t quite mean to say to my sister-in-law, what all that past rearranging would mean right now: no Dudley.

It would mean no Dudley. Photo: iStock via Getty.Source:Whimn

Parents like me often feel betrayed by their child’s cystic-fibrosis diagnosis: Maybe there was medical malpractice, maybe an inherited mutation so rare it wasn’t detected prenatally. Other parents have chosen to avoid any kind of testing, believing it’s their destiny to embrace whatever God or fate or genetics deals them. I’m horrified by the sanctimony that often accompanies this acceptance, especially when it’s admired, especially when it’s offered up by mothers who don’t “believe” in prenatal testing or who have more than one child with cystic fibrosis. The women who willingly made choices that were never presented to me and chose a child’s suffering: Sometimes I hate them.

I also hate the women who were supposed to care for me. I hate the faceless people at the lab. I hate them ferociously, the way you hate a family member or the closest of friends. I hate them the way you hate a spouse, for all the bad they caused, and how closely tied that bad is with good. I hate them for what feels like the slyest of deals: While my family’s life is now shaped around a disease I would never willingly bring into the world, we are a family because of them — unwittingly, they gave me my most precious gift. I hate them for making me a mother whose biggest mistake was becoming one.

My son has blue eyes, curly blond hair, slightly crooked teeth. He’s daring, most of the time. He’s afraid of doctors and anyone in a flapping coat. I want the people I hate to know these details about him. I want them to be able to smell his soft breath in the morning, just before I strap a mask over his face so he can inhale medication. I want them to fathom telling a child no amount of treatment can make his disease go away, that people with CF are so likely to pass bacteria between each other they can’t be in the same room, that most men with CF are infertile, that every drinking fountain holds the risk of a lung infection. I want them to feel all the moments in a life affected by this disease and experience what it’s going to be like, to be Dudley. I want to take all the pain and disappointment he’ll have and drown them in it.

But no matter whose fault it is, giving birth to a child with a terminal disease is something I did do. This is just as obvious as it is important: I am the one who was pregnant and gave birth to Dudley. That I continued my pregnancy under mistaken pretenses feels like an irreparable violation, one that I don’t think any man — including the one who loves Dudley as much as I do — is capable of understanding. A woman once described the grief of her miscarriage to me as a “biological loneliness”; that’s something close to what wrongful birth feels like. A biological remorse. Logically, I know the guilt belongs elsewhere. But biologically, I feel a deep responsibility, a primal and uniquely female pain.

In 1975, a woman named Dortha Biggs, then Dortha Jacobs, successfully sued her doctor for not diagnosing her with rubella — known to cause a host of birth defects — while she was pregnant with her daughter Lesli. Hers was the case that established the legal concept of wrongful birth, paving the way for families like mine.

Lesli, who’s now in her late 40s, lives in an assisted-living home; because of the rubella that infected her cells in utero, Lesli cannot see, hear, talk, or walk. She has severe intellectual disabilities and has had over 20 surgeries. I was afraid of what her mother might think of me, with a son like mine, who looks relatively okay between treatments. But Dortha was easy to find and readily willing to speak with me, insistent on asking about my child before talking about her own.

Giving birth to a child with a terminal disease is something Jen did do. Photo: istockSource:Whimn

Dortha’s voice was calm during most of our talk, but it did speed up once, after I brought up anger. “Oh, yeah,” she said. “Oh, yeah.” The last time Dortha saw the doctor she sued, the now-deceased Louis Theimer, was at a deposition more than 40 years ago. In some ways, she respects him because he didn’t try to lie his way out of anything. He never denied that Dortha asked about rubella while she was pregnant.

“I don’t hate him,” she said, taking half a pause. “I don’t like him”

We both laughed a little before she grew serious again: “I don’t like what he did to me.” She told me about going back to Dr. Theimer to inform him Lesli had been born with the rubella virus in her body. “I’ll always remember,” she said, her voice full of fresh wonder even after all this time, “him looking at me and saying, ‘I’m just going to have to be more careful.’ ”

The conversation turned back to Dudley, and I tried explaining our situation — the similarities, the differences — ending with a sideways apology for having a child with much more of a chance than hers ever did. “But it’s your child,” she interrupted, “and when it’s your child, it’s the worst.”

Wobblingly, I asked Dortha what she felt after the ruling and subsequent settlement agreement with Dr. Theimer (about $120,000, which was placed in a fund for Lesli), explaining I’d been thinking about what might happen if we got a settlement. “It didn’t make her well,” she said. It did not help her own pain. It helped her get out of debt. It gave her some money for her daughter.

Dortha’s glad her case ended the way it did, but she’s not happy about the name the action ended up with: “I don’t like it!” she told me. “I just think it’s horrible.” If she could rename it, she’d do away with the words wrongful and birth in favor of something like “parental choice.” For whatever reason, the language, controversial as it is, doesn’t bother me. It’s clumsy and raw, and I do think it’s horrible — just like the circumstances.

Toward the end of our talk, Dortha gently helped me with a question, reframing it to let me know I could ask her about guilt. She said she does feel guilty, sometimes. She’ll go back and think about what she might have done differently. Her doctor was a general practitioner; maybe she should have seen a gynaecologist. She did call one — but he was too busy to see her, she said, in the voice of someone who’s told herself the same complicated, circular story many times over.

Similar decisions I made when I was pregnant continue to haunt me. A friend had recommended I see her midwife over the ones I chose; I didn’t take her advice. For my son’s sake, I wish I’d chosen differently — the last half of that sentence swiftly yanking away the first. Dortha thinks it’s only natural for mothers like us to rove over the possibilities of what could have been, what we did or didn’t do. “It’s a life sentence,” she said simply, 47 years ahead of me in serving hers.

Similar decisions Jen made when she was pregnant continue to haunt her. Photo: iStockSource:Whimn

When I first started writing about Dudley, his treatments took 30 minutes in the morning, 30 more in the evening. That’s since changed. This summer, he tested positive for the bacteria Pseudomonas and was prescribed an additional treatment, the antibiotic Tobramycin, which takes 20 to 30 minutes to administer via a nebuliser, a drug-delivery device that diffuses liquid medication into a fine spray so it can be inhaled. When he sits in front of cartoons with a mask on, he’s inhaling the antibiotics that work to kill the bacteria. But Pseudomonas is likely to return — it’s an “opportunistic infection” that, eventually, becomes immune to antibiotics. For cystic-fibrosis patients, it’s one of the factors associated with an earlier death.

Lately, Dudley’s favourite word is more

The meaning seems to blur at the edges — sometimes I can tell he wants more milk, other times he seems to mean something akin to “again.” But whatever he means, when he says the word, he stares off into the distance, repeating himself as his voice grows quieter and quieter, until it’s more of a plaintive murmur than a demand. He’s a toddler, and between treatments, he’s a busy, capable little boy. He interacts with the world more and more each day, and he wants things from it.

I’m afraid of what he might want from me someday, of the kinds of questions he’ll want answered. He’s not dumb: He’ll figure out that his disease should have been detected before he was born, not after. The prenatal results should have been communicated to me by the midwives. A genetic counselor should have explained that being a carrier doesn’t necessarily mean an unhealthy fetus. She should have recommended that my husband be tested, just in case. She should have explained that in the U.S., one in 29 Caucasians carry a CF mutation. And even if Tag were also a carrier, a counselor should have told us, there was still a 75 percent chance of the fetus being fine. I would have had an amniocentesis or chorionic villus sampling to know for sure.

But none of those results would have been the ones we wanted, and we’d be up against the last should: I should have had an abortion. And that’s where my conviction crumples, because I don’t know how I’m supposed to tell Dudley that someday. It’s one thing to watch a loved one suffer. It’s another to watch and know it’s your fault, even if only because of the way your body is made. And it’s something almost beyond me to imagine, looking into Dudley’s eyes and saying, I’m sorry I didn’t save you, from your own life.

It’s true that the outlook for a cystic-fibrosis patient has improved greatly, especially over the past 20 years. In the 1950s, most children with cystic fibrosis died before getting the chance to attend kindergarten. This progress was something emphasized to us, over and over again, after Dudley was diagnosed. We’ve got adult patients! our clinic kept saying. It took me a little while to figure out why I was supposed to feel grateful to hear about them, these full-grown strangers whose disease I’d once known nothing about. These days, adulthood is a big part of what I fear most for Dudley — what that must feel like, to be 25 and not sure what 30 will look like, if you might see 40. Our clinic recently added a new member to its staff: a psychologist specially trained to focus on the mental health of cystic-fibrosis patients, who suffer from depression and anxiety at alarmingly high rates.

Right now, Dudley does not look ill in a way that would startle anyone. No one knows he’s unwell unless we tell them. A time will come, I know, when the decision to tell others about his disease will belong to him. Young adults with CF sometimes discuss this in the context of dating, how and at what point in a new relationship to explain what I’ve heard described as a “long-term terminal” disease.

When we moved forward with our lawyer, I first pictured the money we might obtain in a settlement like the crassest of apologies. I could give it to young-adult Dudley if his health seemed to be taking a turn for the worse, and he could use it to travel the world and see places I’ve never been, in a glamorous rush to fill his shortened life. But this is a silly thought — he’d almost certainly be too sick to travel. And we need that money for his medical expenses.

Recently, the FDA approved Dudley’s particular genetic mutations for treatment with a “miracle” cystic-fibrosis drug called Kalydeco — the first drug to fight the disease’s underlying cause. It’s a stunning change, one that could potentially add years to his life. The news does not come without complications — Kalydeco costs about $300,000 a year. If everything stays the same for our family, with employment and health-care politics, insurance will pay for most of its cost. But the enormity of that burden makes me scared for us, for Dudley. It’s such a looming need. And not even the millions and millions of dollars we’d need to purchase this drug outright can buy what I truly want for my son: the chance to look ahead and see the same bright mystery that healthy young people see, brimming in their perfect idiot youth.

Of the bond between motherhood and mortality, the novelist Samantha Hunt has written, “No one has ever looked at my kids and said, ‘Wow. You made three deaths. You must really understand life.’ ” When I made Dudley, I made a particularly brutal death, one that starts in his cells, which don’t work quite right. I don’t know how to be sorry, only that I am. If I had received my test results, and gotten pregnant using IVF to ensure a healthy embryo, would I still have made Dudley, this exact son, only without his disease? That possibility is agonizing to think of — all the years of life I can’t give him.

I love my child just the way he is

It's a sentiment often put forth, fiercely, by the parents of sick or disabled kids. It’s not hard to understand the intention — every parent wants to make it clear that no challenge renders their love conditional. But given the choice, if one existed, I would have Dudley another way: healthy. Wrongful birth doesn’t grant anyone that choice; like Dortha said, no legal outcome can ever make your child well.

Having to put this kind of pain into words is, to me, the hardest part of wrongful birth. To have to specify what would make me terminate a pregnancy, to imagine my life today without a toddler. There’s no escape from knowing that the opportunity for mercy quietly slipped by and that something as idiotic as a clerical error is responsible. But the most consuming, language-defying pain is just the other side of the most overwhelming joy. There are no words for the feeling of walking down the street with the person I love most, no words to describe why I wanted to have a child in the first place. After all this pain and humiliation and anger boiled down to records and money and who did what, the love I have for my son feels like the one thing that can’t be taken from me. It’s what I know more than anything in this world.

This article originally appeared on The Cut and is republished here with permission.